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Ann Clin Neurophysiol > Volume 21(1); 2019 > Article
Ann Clin Neurophysiol. 2019; 21(1): 57-60.
Published online January 29, 2019.
doi: https://doi.org/10.14253/acn.2019.21.1.57
A novel p.Leu699Pro mutation in MFN2 gene causes Charcot-Marie-Tooth disease type 2A
Sa-Yoon Kang  , Keun Hyuk Ko  , and Jung-Hwan Oh 
Department of Neurology, Jeju National University School of Medicine, Jeju, Korea
Corresponding Author: Sa-Yoon Kang ,Tel: +82-64-754-8175, Fax: +82-64-717-1630, Email: neurokang@jejunu.ac.kr
Received June 14, 2018   Revised: November 30, 2018    Accepted December 5, 2018
Axonal Charcot-Marie-Tooth disease (CMT2) has most frequently been associated with mutations in the MFN2 gene. MFN2 encodes mitofusin 2, which is a mitochondrial fusion protein that plays an essential role in mitochondrial function. We report CMT2 in a Korean father and his son that manifested with gait difficulties and progressive atrophy of the lower legs. Molecular analysis revealed a novel heterozygous c.2096T>C (p.Leu699Pro) mutation in the exon 18 of MFN2 in both subjects. We suggest that this novel mutation in MFN2 is probably a pathogenic mutation for CMT2.
Key words: Charcot-Marie-Tooth disease; MFN2; Mutation; Phenotype
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